A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17425173



Internal ID22483043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41057563..41057563hg38UCSC Ensembl
chr5:41057665..41057665hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38166
hg19166
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5959622
Supporting Variants
Samples
Known GenesMROH2B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17425173
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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